Canonical Allele Identifier: CA2654788952

Gene: AIRE

Linked Data

• gnomAD v4: 21-44286595-G-GCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286595_44286596insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA , CM000683.2:g.44286595_44286596insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA	GRCh38
NC_000021.8:g.45706478_45706479insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA , CM000683.1:g.45706478_45706479insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA	GRCh37
NC_000021.7:g.44530906_44530907insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA	NCBI36
NG_009556.1:g.5716_5717insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA , LRG_18:g.5716_5717insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.171_172insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA MANE Select	ENSP00000291582.5:p.Ala58LeufsTer31
ENST00000291582.5:c.171_172insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA	ENSP00000291582.5:p.Ala58LeufsTer31
ENST00000527919.5:n.332_333insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA
ENST00000530812.5:n.340_341insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA
NM_000383.3:c.171_172insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA	NP_000374.1:p.Ala58LeufsTer31
XM_011529551.1:c.171_172insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA	XP_011527853.1:p.Ala58LeufsTer31
NM_000383.4:c.171_172insCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGA MANE Select	NP_000374.1:p.Ala58LeufsTer31